Now, a test that matches cystic fibrosis patients with best therapy

A team of researchers has found a way to match each cystic fibrosis patient with their best individual treatment option.

A team led by University of North Carolina researchers presented a simple test that aims to predict which treatment is most likely to work for each patient, an approach known as personalized or precision medicine.

"Any given drug may not be the drug that works best for a given patient, because there's so much variation from person to person," said researcher Jennifer Guimbellot. "We still have a long way to go to get a really optimized therapy for most cystic fibrosis patients, and the only way we can do that is to have a model like ours, where we can take cells from each individual patient and test them with each individual drug to find out which one is the best match."

From a drug-design perspective, cystic fibrosis is an enormous challenge. People develop CF because they do not have a functioning version of the CFTR gene. But the condition, which involves the buildup of thick, sticky mucus in the lungs, is tied to more than 2,000 genetic mutations. A person's specific combination of mutations affects both the severity of the disease and how well the patient responds to treatment.

Guimbellot was working with lead study author Martina Gentzsch on an unrelated research project when she noticed some funny little balls forming from cells taken from the inside of the nose. The two scientists soon realized that the balls, which are called nasospheroids, were filled with fluid.

This gave them an idea. Maybe these nasospheroids could help to study essential parts of the CF hydration problem.

Fluid is at the heart of cystic fibrosis, since hydration of nasal and lung surfaces is what determines whether mucus is slippery or sticky. Guimbellot and Gentzsch learned how to grow nasospheroids from cells taken from the inside of the noses of cystic fibrosis patients. The researchers then exposed the nasospheroids to various CFTR drugs to see what would happen.

The results suggest growing nasospheroids from nasal samples could provide a quick screening method to determine how a patient's cells react to different CFTR drugs.

"It is a relatively simple procedure that doesn't require any anesthesia and uses a brush that costs a few dollars," said Gentzsch. "The spheroids form quickly in just a few days without much manipulation."

Gentzsch said the testing approach could offer patients a welcome alternative to rectal biopsy. It might even be more reliable from a screening standpoint because the drugs are able to interact directly with the right parts on the outside of the nasospheroids, rather than having to enter the spheroids as required with the rectal biopsy method.

The study is published in the Journal of Clinical Investigation Insight.